FISH ANALYSIS IN PRADER-WILLI AND ANGELMAN SYNDROME PATIENTS

被引：9

作者：

BETTIO, D

RIZZI, N

GIARDINO, D

GRUGNI, G

BRISCIOLI, V

SELICORNI, A

CARNEVALE, F

LARIZZA, L

机构：

[1] CTR AUXOL ITALIANO PIANCAVALLO,OSPED SAN GIUSEPPE,DIV AUXOL,PIANCAVALLO,ITALY

[2] UNIV MILAN,CLIN PEDIAT DE MARCHI,MILAN,ITALY

[3] OSPED PEDIAT REG GIOVANNI XXIII,BARI,ITALY

[4] UNIV MILAN,DIPARTIMENTO BIOL & GENET SCI MED,MILAN,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 02期

关键词：

CHROMOSOME; 15; ANGELMAN SYNDROME; PRADER-WILLI SYNDROME; FISH ANALYSIS;

D O I：

10.1002/ajmg.1320560222

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GrABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion. (C) 1995 Wiley-Liss, Inc.

引用

页码：224 / 228

页数：5

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